Canonical Allele Identifier: CA266675537

Gene: HHIPL1

Linked Data

• dbSNP Id: rs967140801
• gnomAD v3: 14-99609361-C-T
• gnomAD v4: 14-99609361-C-T
• MyVariant Identifiers: chr14:g.100075698C>T (hg19) ; chr14:g.99609361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99609361C>T , CM000676.2:g.99609361C>T	GRCh38
NC_000014.8:g.100075698C>T , CM000676.1:g.100075698C>T	GRCh37
NC_000014.7:g.99145451C>T	NCBI36
NG_051108.1:g.9886C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_006720277.2:c.-199+4746C>T	XP_006720340.1:n.-199+4746C>T
XM_011537236.1:c.-287+4746C>T	XP_011535538.1:n.-287+4746C>T
NM_001329411.1:c.-287+4746C>T	NP_001316340.1:n.-287+4746C>T
XM_006720277.3:c.-199+4746C>T	XP_006720340.1:n.-199+4746C>T
XM_011537236.2:c.-287+4746C>T	XP_011535538.1:n.-287+4746C>T
NM_001329411.2:c.-287+4746C>T	NP_001316340.1:n.-287+4746C>T